Incidental Mutation 'R4015:Tef'
ID 311924
Institutional Source Beutler Lab
Gene Symbol Tef
Ensembl Gene ENSMUSG00000022389
Gene Name thyrotroph embryonic factor
Synonyms 2310028D20Rik
MMRRC Submission 040952-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.644) question?
Stock # R4015 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 81686874-81711064 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 81707806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 261 (V261A)
Ref Sequence ENSEMBL: ENSMUSP00000105180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023024] [ENSMUST00000109553] [ENSMUST00000168200]
AlphaFold Q9JLC6
Predicted Effect possibly damaging
Transcript: ENSMUST00000023024
AA Change: V277A

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000023024
Gene: ENSMUSG00000022389
AA Change: V277A

DomainStartEndE-ValueType
low complexity region 13 28 N/A INTRINSIC
low complexity region 50 63 N/A INTRINSIC
low complexity region 64 75 N/A INTRINSIC
low complexity region 131 145 N/A INTRINSIC
low complexity region 150 159 N/A INTRINSIC
BRLZ 229 293 1.87e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109553
AA Change: V261A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105180
Gene: ENSMUSG00000022389
AA Change: V261A

DomainStartEndE-ValueType
low complexity region 31 47 N/A INTRINSIC
low complexity region 48 59 N/A INTRINSIC
low complexity region 115 129 N/A INTRINSIC
low complexity region 134 143 N/A INTRINSIC
BRLZ 213 277 1.87e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167138
Predicted Effect probably benign
Transcript: ENSMUST00000168200
SMART Domains Protein: ENSMUSP00000132026
Gene: ENSMUSG00000022389

DomainStartEndE-ValueType
low complexity region 62 76 N/A INTRINSIC
low complexity region 81 90 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168632
Meta Mutation Damage Score 0.7892 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.5%
Validation Efficiency 97% (38/39)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PAR (proline and acidic amino acid-rich) subfamily of basic region/leucine zipper (bZIP) transcription factors. It is expressed in a broad range of cells and tissues in adult animals, however, during embryonic development, TEF expression appears to be restricted to the developing anterior pituitary gland, coincident with the appearance of thyroid-stimulating hormone, beta (TSHB). Indeed, TEF can bind to, and transactivate the TSHB promoter. It shows homology (in the functional domains) with other members of the PAR-bZIP subfamily of transcription factors, which include albumin D box-binding protein (DBP), human hepatic leukemia factor (HLF) and chicken vitellogenin gene-binding protein (VBP); VBP is considered the chicken homologue of TEF. Different members of the subfamily can readily form heterodimers, and share DNA-binding, and transcriptional regulatory properties. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygous mutant are subject to seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 C T 1: 75,151,135 (GRCm39) probably null Het
Cacna1e T C 1: 154,358,331 (GRCm39) D580G probably damaging Het
Ccdc66 A G 14: 27,205,793 (GRCm39) I898T probably damaging Het
Celf3 T C 3: 94,394,505 (GRCm39) V202A probably benign Het
Cfap161 C T 7: 83,429,479 (GRCm39) G180S probably benign Het
Col5a2 T C 1: 45,442,631 (GRCm39) I605V probably benign Het
Coq6 A G 12: 84,413,671 (GRCm39) H67R probably benign Het
Cyp2b19 T C 7: 26,461,768 (GRCm39) F196S probably damaging Het
Cyp4a14 G T 4: 115,348,331 (GRCm39) P382Q probably damaging Het
Dctpp1 G A 7: 126,856,285 (GRCm39) R146C probably damaging Het
Ddias T C 7: 92,509,069 (GRCm39) K282R probably benign Het
Dnah10 A G 5: 124,854,990 (GRCm39) Q1965R probably benign Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Igf2bp2 T C 16: 21,882,426 (GRCm39) N425S probably damaging Het
Lrp1b A G 2: 40,692,996 (GRCm39) F3401L possibly damaging Het
Mocs2 T C 13: 114,957,334 (GRCm39) probably benign Het
Muc5b G A 7: 141,417,367 (GRCm39) V3438M probably benign Het
Myo3a A G 2: 22,468,182 (GRCm39) R479G possibly damaging Het
Nalcn T G 14: 123,723,799 (GRCm39) E422A probably damaging Het
Pcdh17 T C 14: 84,684,547 (GRCm39) V338A probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rbm12b1 T C 4: 12,145,491 (GRCm39) S488P probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Srcap C A 7: 127,124,595 (GRCm39) P255Q probably benign Het
Sult6b2 T A 6: 142,735,988 (GRCm39) N202I possibly damaging Het
Tcf7l1 A G 6: 72,613,382 (GRCm39) probably benign Het
Trio C T 15: 27,744,187 (GRCm39) V2582I possibly damaging Het
Tyr A G 7: 87,087,148 (GRCm39) S455P probably benign Het
Uggt2 T C 14: 119,263,845 (GRCm39) N1062D possibly damaging Het
Unc13b G A 4: 43,237,801 (GRCm39) G3441R probably damaging Het
Vmn1r214 G A 13: 23,219,520 (GRCm39) C338Y probably benign Het
Wdr70 A T 15: 8,108,698 (GRCm39) C149* probably null Het
Zfp867 A G 11: 59,354,520 (GRCm39) F270L probably damaging Het
Other mutations in Tef
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00693:Tef APN 15 81,699,384 (GRCm39) missense probably benign 0.00
IGL02303:Tef APN 15 81,705,496 (GRCm39) missense probably benign 0.01
IGL02399:Tef APN 15 81,699,301 (GRCm39) missense probably damaging 1.00
R4786:Tef UTSW 15 81,699,453 (GRCm39) missense probably benign 0.45
R4787:Tef UTSW 15 81,707,758 (GRCm39) missense probably damaging 0.96
R8515:Tef UTSW 15 81,687,037 (GRCm39) missense possibly damaging 0.90
R8677:Tef UTSW 15 81,699,169 (GRCm39) missense probably damaging 0.96
R9000:Tef UTSW 15 81,695,773 (GRCm39) start codon destroyed probably null 0.33
Predicted Primers PCR Primer
(F):5'- GGGGAATACCAGACACTCAC -3'
(R):5'- TGCTGGCCATGTTATAATGAAGC -3'

Sequencing Primer
(F):5'- GACACTCACAGAGGACACTTTC -3'
(R):5'- CCATGTTATAATGAAGCTGAGACGTG -3'
Posted On 2015-04-29